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Concerns About Justification For Fetal Genome Sequencing, Leslie Francis
Concerns About Justification For Fetal Genome Sequencing, Leslie Francis
Utah Law Faculty Scholarship
The proposal by Chen and Wasserman (2017) contributes to a long-standing debate about the scope of prenatal screening services. With realistic prospects of fetal genome-scale sequencing from noninvasive maternal blood sampling (NIPW), their framework is timely. However, we outline a number of concerns regarding this approach, ranging from the philosophical to the social and clinical. A key concern in this literature is that the framework lacks a clear philosophical foundation. Despite the long history of prenatal diagnosis (PND), a central question remains regarding the core justification for these services.
Techniques And Approaches To Genetic Analyses In Nephrological Disorders., Laurel K. Willig
Techniques And Approaches To Genetic Analyses In Nephrological Disorders., Laurel K. Willig
Manuscripts, Articles, Book Chapters and Other Papers
Inherited renal disease is a leading cause of morbidity and mortality in pediatric nephrology. High throughput advancements in genomics have led to greater understanding of the biologic underpinnings of these diseases. However, the underlying genetic changes explain only part of the molecular biology that contributes to disease manifestation and progression. Other omics technologies will provide a more complete picture of these cellular processes. This review discusses these omics technologies in the context of pediatric renal disease.
The Challenge Of Analyzing The Results Of Next-Generation Sequencing In Children., Isabelle Thiffault, John Lantos
The Challenge Of Analyzing The Results Of Next-Generation Sequencing In Children., Isabelle Thiffault, John Lantos
Manuscripts, Articles, Book Chapters and Other Papers
In recent years, next-generation sequencing technologies have revolutionized approaches to genetic studies. Whole-exome or whole-genome sequencing allows diagnoses in many patients who have complex phenotypes and unusual clinical presentations. As genomic and exomic testing expands in both the research and clinical settings, pediatricians will need to understand the technology of next-generation sequencing and the complexity of interpreting genomic variants relevant to patient phenotypic features. This article briefly explains the technology by which genomes are sequenced and discusses some of the complexity related to interpreting genomic variants. We conclude with some thoughts on the clinical applications of such testing.
Whole-Genome Sequencing And Disability In The Nicu: Exploring Practical And Ethical Challenges., Michael J. Deem
Whole-Genome Sequencing And Disability In The Nicu: Exploring Practical And Ethical Challenges., Michael J. Deem
Manuscripts, Articles, Book Chapters and Other Papers
Clinical whole-genome sequencing (WGS) promises to deliver faster diagnoses and lead to better management of care in the NICU. However,several disability rights advocates have expressed concern that clinical use of genetic technologies may reinforce and perpetuate stigmatization of and discrimination against disabled persons in medical and social contexts. There is growing need, then, for clinicians and bioethicists to consider how the clinical use of WGS in the newborn period might exacerbate such harms to persons with disabilities. This article explores ways to extend these concerns to clinical WGS in neonatal care. By considering these perspectives during the early phases of …